ENSG00000034971


Homo sapiens

Features
Gene ID: ENSG00000034971
  
Biological name :MYOC
  
Synonyms : MYOC / myocilin / Q99972
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q24.3
Gene start: 171635417
Gene end: 171652683
  
Corresponding Affymetrix probe sets: 210155_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000037502
Ensembl peptide - ENSP00000491206
NCBI entrez gene - 4653     See in Manteia.
OMIM - 601652
RefSeq - NM_000261
RefSeq Peptide - NP_000252
swissprot - A0A1W2PP09
swissprot - A0A0S2Z421
swissprot - Q99972
Ensembl - ENSG00000034971
  
Related genetic diseases (OMIM): 137750 - Glaucoma 1A, primary open angle, 137750
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 myocENSDARG00000021789Danio rerio
 MYOCENSGALG00000021074Gallus gallus
 MyocENSMUSG00000026697Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
OLFM1 / Q99784 / olfactomedin 1ENSG0000013055828
OLFM3 / Q96PB7 / olfactomedin 3ENSG0000011873326
OLFM2 / O95897 / olfactomedin 2ENSG0000010508826
Q68BL8 / OLFML2B / olfactomedin like 2BENSG0000016274524
Q68BL7 / OLFML2A / olfactomedin like 2AENSG0000018558523
OLFM4 / Q6UX06 / olfactomedin 4ENSG0000010283720
OLFML1 / Q6UWY5 / olfactomedin like 1ENSG0000018380119
OLFML3 / Q9NRN5 / olfactomedin like 3ENSG0000011677418
GLDN / Q6ZMI3 / gliomedinENSG0000018641716


Protein motifs (from Interpro)
Interpro ID Name
 IPR003112  Olfactomedin-like domain
 IPR031213  Myocilin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001649 osteoblast differentiation IDA
 biological_processGO:0001952 regulation of cell-matrix adhesion IEA
 biological_processGO:0001953 negative regulation of cell-matrix adhesion IDA
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IDA
 biological_processGO:0014734 skeletal muscle hypertrophy ISS
 biological_processGO:0022011 myelination in peripheral nervous system ISS
 biological_processGO:0030335 positive regulation of cell migration IDA
 biological_processGO:0031175 neuron projection development IMP
 biological_processGO:0035024 negative regulation of Rho protein signal transduction IDA
 biological_processGO:0038031 non-canonical Wnt signaling pathway via JNK cascade IMP
 biological_processGO:0038133 ERBB2-ERBB3 signaling pathway ISS
 biological_processGO:0043408 regulation of MAPK cascade IDA
 biological_processGO:0045162 clustering of voltage-gated sodium channels ISS
 biological_processGO:0051492 regulation of stress fiber assembly IEA
 biological_processGO:0051496 positive regulation of stress fiber assembly IDA
 biological_processGO:0051497 negative regulation of stress fiber assembly IDA
 biological_processGO:0051894 positive regulation of focal adhesion assembly IDA
 biological_processGO:0051897 positive regulation of protein kinase B signaling IDA
 biological_processGO:0051901 positive regulation of mitochondrial depolarization IDA
 biological_processGO:0060348 bone development ISS
 biological_processGO:1900026 positive regulation of substrate adhesion-dependent cell spreading IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005741 mitochondrial outer membrane IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005758 mitochondrial intermembrane space IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005791 rough endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0033268 node of Ranvier ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0070062 extracellular exosome IEA
 molecular_functionGO:0001968 fibronectin binding IPI
 molecular_functionGO:0005109 frizzled binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030971 receptor tyrosine kinase binding IEA
 molecular_functionGO:0032027 myosin light chain binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000541 Detached retina 
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 HP:0000545 Myopia 
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 HP:0000572 Visual loss 
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 HP:0001052 Nevus flammeus "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken]
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 HP:0007905 Abnormal iris vasculature 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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